MLH1 c.2029A>C ;(p.S677R)

Variant ID: 3-37090434-A-C

NM_000249.3(MLH1):c.2029A>C;(p.S677R)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Multiscale heterogeneity in gastric adenocarcinoma evolution is an obstacle to precision medicine.

Genome Medicine
Röcken, Christoph C; Amallraja, Anu A; Halske, Christine C; Opasic, Luka L; Traulsen, Arne A; Behrens, Hans-Michael HM; Krüger, Sandra S; Liu, Anne A; Haag, Jochen J; Egberts, Jan-Hendrik JH; Rosenstiel, Philip P; Meißner, Tobias T
Publication Date: 2021-11-08

Variant appearance in text: MLH1: S677R
PubMed Link: 34749812
Variant Present in the following documents:
  • 13073_2021_975_MOESM2_ESM.xlsx, sheet 6
  • 13073_2021_975_MOESM2_ESM.xlsx, sheet 5
  • 13073_2021_975_MOESM2_ESM.xlsx, sheet 16
  • 13073_2021_975_MOESM2_ESM.xlsx, sheet 12
View BVdb publication page



The Genomic Landscape of Serrated Lesion of the Colorectum: Similarities and Differences With Tubular and Tubulovillous Adenomas.

Frontiers In Oncology
Tornillo, Luigi L; Lehmann, Frank Serge FS; Garofoli, Andrea A; Paradiso, Viola V; Ng, Charlotte K Y CKY; Piscuoglio, Salvatore S
Publication Date: 2021

Variant appearance in text: MLH1: 2029A>C; Ser677Arg
PubMed Link: 34712603
Variant Present in the following documents:
  • Table_2.xlsx, sheet 1
View BVdb publication page



A computational and structural analysis of germline and somatic variants affecting the DDR mechanism, and their impact on human diseases.

Scientific Reports
Magraner-Pardo, Lorena L; Laskowski, Roman A RA; Pons, Tirso T; Thornton, Janet M JM
Publication Date: 2021-07-12

Variant appearance in text: HNPCC2: S677R
PubMed Link: 34253785
Variant Present in the following documents:
  • 41598_2021_93715_MOESM3_ESM.xlsx, sheet 4
View BVdb publication page